Abstract：
Copy number variations (CNVs) in chromosome 16p11.2 (deletions and duplications) are not rare. 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. Here, we report the prenatal diagnosis and genetic counseling of a maternally inherited 16p11.2 microdeletion. In this family, the mother and fetus both have a normal phenotype and the same microdeletion. Following the use of molecular genetic techniques, including array-based methods, the number of reported cases has rapidly increased. The combination of prenatal ultrasound, karyotype analysis, chromosomal microarray analysis (CMA), and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.
摘要：
染色体16p11.2中的拷贝数变异（CNV）（缺失和重复）并不罕见。16p11.2微缺失是自闭症谱系障碍最常见的遗传病因之一，超重,和相关的神经发育障碍。这里,我们报告了母系遗传16p11.2微缺失的产前诊断和遗传咨询。在这个家庭里,母亲和胎儿都有正常的表型和相同的微缺失。在使用分子遗传技术之后，包括基于数组的方法，报告的病例数量迅速增加。产前超声的结合，核型分析,染色体微阵列分析（CMA），遗传咨询有助于染色体微缺失/微重复的产前诊断。
